Childhood Cone-rod Dystrophy with Macular Cystic Degeneration from RecessiveCRB1Mutation
Author:
Publisher
Informa UK Limited
Subject
Genetics(clinical),Ophthalmology,Pediatrics, Perinatology, and Child Health
Link
http://www.tandfonline.com/doi/pdf/10.3109/13816810.2013.804097
Reference34 articles.
1. The molecular basis of human retinal and vitreoretinal diseases
2. Retinitis pigmentosa
3. Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies
4. Macular cysts in retinal dystrophy
5. Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)
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1. Loss of the crumbs cell polarity complex disrupts epigenetic transcriptional control and cell cycle progression in the developing retina;The Journal of Pathology;2023-02-09
2. A novel nonsense variant (c.1499C>G) in CRB1 caused Leber congenital amaurosis-8 in a Chinese family and a literature review;BMC Medical Genomics;2022-09-17
3. Biallelic Heterozygous Mutations in Crumbs Homolog-1 Gene Associated With Macular Retinoschisis and Angle-Closure Glaucoma: A Case Report and Literature Review;Frontiers in Ophthalmology;2022-06-03
4. Identification of a novel CRB1 variant in a compound heterozygous state in a patient with CRB1-associated maculopathy and foveal retinoschisis;Ophthalmic Genetics;2021-11-16
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